Leri Pleonosteosis

Synonyms

• Pleonosteosis, Leri Type

Disorder Subdivisions

• None

General Discussion

Leri Pleonosteosis is an extremely rare inherited disorder characterized by unusual, flattened facial features, abnormalities of the hands and feet, skeletal malformations, short stature, and/or limitation of joint movements. Characteristic abnormalities of the hands and feet may include unusually broad and/or short thumbs and great toes (brachydactyly) that may be bent outward from the body (valgus position); as a result, the hands may have a "spade-shaped" appearance. Skeletal malformations may include knees that are bent backward (genu recurvitum) and abnormal enlargement of the cartilaginous structures that surround the upper portion of the spinal cord (posterior neural arches of the cervical vertebrae). In addition, affected individuals may develop thickened tissue on the palms (palmar) and forearms. Symptoms may vary from case to case. Leri pleonosteosis is inherited as an autosomal dominant genetic trait.

Resources

Human Growth Foundation
997 Glen Cove Avenue
Glen Head, NY 11545
Tel: (516)671-4041
Fax: (516)671-4055
Tel: (800)451-6434
Email: hgf1@hgfound.org
Internet: http://www.hgfound.org/

Little People's Research Fund, Inc.
616 Old Edmondson Avenue
2nd Floor
Catonsville, MD 21228-3305
USA
Tel: 4107471100
Fax: 4107471374
Tel: 8002325773
Email: lprf@lprf.org
Internet: http://www.lprf.org

Little People of America, Inc.
5289 Northeast Elam Young Parkway
Suite F100
Hillsboro, OR 97124
Tel: (503)846-1562
Fax: (503)846-1590
Tel: (888)572-2001
Email: info@lpaonline.org
Internet: http://www.lpaonline.org

Restricted Growth Association
P.O. Box 4744
Dorchester
Dorset, Intl DT2 9FA
United Kingdom
Tel: 01308 898445
Fax: 01308 898445
Internet: http://www.restrictedgrowth.co.uk

NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 AMS Circle
Bethesda, MD 20892-3675
USA
Tel: 3014954484
Fax: 3017186366
Tel: 8772264267
TDD: 3015652966
Email: NIAMSinfo@mail.nih.gov
Internet: http://www.niams.nih.gov

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated: 3/29/2005
Copyright 1996, 1997, 2005 National Organization for Rare Disorders, Inc.